ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437562
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
397520
ClinVar RCV Id:
RCV000449537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Gly2664Val
CA16609396
NM_014363.6:c.7991G>T